TWIST1 S188L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

TWIST1 S188L

(TWIST1 Ser188Leu)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.541 (possibly damaging)
    Web search results (4 hits -- see all)
  • Type I- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Polymorphism (dbSNP:rs9296419) ITGB3 P05106 S188L 188 VAR_010651 STE20 (0.865) ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Type I- 98
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... 768) Polymorphism (dbSNP:rs4151027) TWIST1 Q15672 S31G 31 VAR_014821 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_98.txt
  • OMIM: 601622
    Twist1 and Twist2 repressed cytokine gene expression through interaction with Rela. ... the TWIST1 gene, resulting in an ser188-to-leu (S188L) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+601622

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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